Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion> ?p ?o ?g. }
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- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion type Assertion NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_head.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion description "[CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion evidence source_evidence_literature NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion SIO_000772 25173900 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion wasDerivedFrom befree-2016 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion wasGeneratedBy ECO_0000203 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.